A brief history of autoinflammatory diseases

This talk was presented as part of the “Managing your Autoinflammatory Disease: Lifestyle and Wellness Workshop,” which took place on April 28, 2018, at Boston Children’s Hospital in Waltham, MA. You can also view the workshop introduction by Dr. Fatma Dedeoglu.

Watch the video or read the transcript below. Also, take a look at other videos from this workshop.

The transcript has been edited for clarity.

Dr. Jonathan Hausmann:

Thank you for that talk. I just wanted to talk a little bit about how I became interested in autoinflammatory diseases. This was a few years ago, I was at a Passover Seder with my family and there was a distant uncle that I’ve never met before. He was a dermatologist and he was working on a book about these weird autoinflammatory diseases. That was my first year as a rheumatology fellow in pediatrics and he was looking for somebody to write a chapter about pediatric autoinflammatory diseases.

I had seen a couple of patients with Dr. Dedeoglu at that time with these weird syndromes of recurrent fevers that we couldn’t really explain and I was really interested. I said, “Yes, why not? I’ll take a couple of hours and write the chapter.” It took a little bit more than a couple of hours–I even remember during one of my vacations working on this instead of spending time with my wife. I became really, really interested in the field of autoinflammatory diseases and reading the literature, I really gained an understanding of how far we’ve come and how much still we have to go.

I remember reading an article from 1908 about this 16-year-old girl that had these weird episodes of fever and abdominal pain that would last about three days and then would go away. At the time that the article was written, she was 16, but she had had this since she was two months of age. This was 1908, they had no idea what was going on, they thought recurrent infections, and toxins, metabolic stuff.

In 1945, there was a paper from the hospital that I trained in, Mount Sinai in New York, where they described five patients with the same syndrome, 1945. They called it benign paroxysmal peritonitis, so this inexplicable intermittent episode of abdominal pain, but they still couldn’t explain it.

In 1987, a pediatrician described 12 children that would get recurrent fevers, sores in their mouth, and sore throats. It would last three to five days and it would respond really really nicely to prednisolone.

It wasn’t until 1997 that they actually found the gene that caused this benign paroxysmal peritonitis, which they called the Mediterranean fever gene (MEFV), in 1997. 1997 is really the dawn of the autoinflammatory diseases, so it’s only been 20 years since we’ve been able to group these illnesses as autoinflammatory diseases.

I graduated medical school not too long ago, in 2008 and I still didn’t learn about these diseases at school. Dr. Dedeoglu is totally right. Most of the doctors in the community have not heard, don’t even know what autoinflammation is. Dr. Dedeoglu and I wrote that chapter on pediatric autoinflammatory diseases and I remember a few months after that, I presented a case about a patient with an autoinflammatory disease in my hospital (In medicine, we do these mystery cases to see who can solve these weird puzzles–we love puzzles).

It was this patient with an autoinflammatory disease and nobody could guess what it was. Then I finally revealed the answer, and they had no idea what that was and then I said, “Oh, yes. This is one of the autoinflammatory diseases.” One of the senior doctors said, “Dr. Hausmann, you mean autoimmune disease?” I’m like, “No, no, no. Autoinflammatory disease.” They had no idea, and these were smart doctors at very good hospitals in Boston. It’s totally right, people are unaware of these conditions.

That prompted me to start this blog about autoinflammatory diseases and be active on Twitter to try to bring awareness to the autoinflammatory diseases, both for patients and for the doctors that care for them. Because certainly, if the doctors aren’t recognizing these diseases, their patients aren’t getting diagnosed. Patients go, as I’m sure you know, for months or even years seeing doctor after doctor without receiving a clear diagnosis.

Then I started seeing the power of social media and network empowerment, how patients and patient groups can meet each other online. There is a lot of knowledge and information gained from patients and their families. Dr. Dedeoglu is right. This is a two-way street. I’m certainly teaching my patients about what I learn about these diseases. My patients, they’re always teaching me about things that they’ve tried and what they found works for them.

It’s been 20 years that we’ve been exploring these autoinflammatory diseases and the more we find out about them, the more we realize that we still don’t know the full story. This story will continue. I hope that today we plant the seeds of future partnerships so that we work together to try to uncover the cause of many of these conditions, find more effective treatments, and improve the speed of diagnosis, while supporting patients and families through this journey.

What we have today, I think, it’s a really great program. First, we’re going to have an expert panel discussion. We’ve asked these individuals to speak for a few minutes and talk a little bit about who they are and what they do, but then we’re going to leave it open for them to answer your questions. That’ll be until about 11:00 am. Then at 11:00, we’ll have presentations about the psychosocial disease management and, again, you’ll also get a chance to ask questions. Then we’ll break for lunch. Hopefully, lunch is a time where we meet and speak with each other and talk and learn from each other.

Then at one o’clock, we’re going to have roundtable discussions on various different topics. These topics were selected by the patients’ community as topics that are of particular importance to patients and their families. The roundtable discussions will go on for about 20 minutes each and you’ll get to attend two of the roundtables. We hope that we both learn from this workshop today. I’m very excited. This is the first time we’re doing it.

Please, in the end, we’re going to have feedback forms, so that you can let us know what worked, what didn’t work, what you think we could do better. Hopefully, this will be the first of many workshops like this.

Thank you guys for coming here on this beautiful Saturday. I’d like to invite Dr. Cohen, Dr. Snell, and Kara to come and talk to you and speak. Thank you so much for being here.

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